Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3766
Gene name	Potassium inwardly rectifying channel subfamily J member 10
Gene symbol	KCNJ10
Synonyms (NCBI Gene)	BIRK-10KCNJ13-PENKIR1.2KIR4.1SESAME
Chromosome	1
Chromosome location	1q23.2
Summary	This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium cha

Show/Hide all (24)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853066	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs137853067	G>A	Pathogenic	Stop gained, coding sequence variant
rs137853068	A>G	Pathogenic	Missense variant, coding sequence variant
rs137853069	G>A	Pathogenic	Missense variant, coding sequence variant
rs137853070	G>A	Pathogenic	Missense variant, coding sequence variant
rs137853071	G>A	Pathogenic	Missense variant, coding sequence variant
rs137853072	C>G	Pathogenic	Missense variant, coding sequence variant
rs137853073	G>T	Pathogenic	Missense variant, coding sequence variant
rs137853074	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs138943405	G>A	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs141553756	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs142228240	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Coding sequence variant, synonymous variant
rs144495959	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Coding sequence variant, synonymous variant
rs145947380	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs146426296	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs373899425	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs387906834	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs757159382	A>C,G	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs775848365	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs796052604	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs796052606	C>A,T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs1404425302	A>G	Pathogenic	Missense variant, coding sequence variant
rs1557967748	C>-	Pathogenic	Stop gained, coding sequence variant
rs1571265496	C>T	Pathogenic	Coding sequence variant, missense variant

213

Show/Hide all (213)

miRTarBase ID	miRNA	Experiments	Reference
MIRT438674	hsa-miR-205-5p	Luciferase reporter assayqRT-PCRWestern blot	23950153
MIRT438674	hsa-miR-205-5p	Luciferase reporter assayqRT-PCRWestern blot	23950153
MIRT722465	hsa-miR-8087	HITS-CLIP	19536157
MIRT722464	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT722463	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT722462	hsa-miR-454-5p	HITS-CLIP	19536157
MIRT722461	hsa-miR-617	HITS-CLIP	19536157
MIRT722460	hsa-miR-3909	HITS-CLIP	19536157
MIRT722459	hsa-miR-6852-3p	HITS-CLIP	19536157
MIRT722458	hsa-miR-5701	HITS-CLIP	19536157
MIRT722457	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT722456	hsa-miR-6883-3p	HITS-CLIP	19536157
MIRT722455	hsa-miR-676-3p	HITS-CLIP	19536157
MIRT722454	hsa-miR-2355-3p	HITS-CLIP	19536157
MIRT607436	hsa-miR-8485	HITS-CLIP	23313552
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT674822	hsa-miR-4476	HITS-CLIP	23824327
MIRT674821	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT638562	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT638561	hsa-miR-3655	HITS-CLIP	23824327
MIRT638560	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT638559	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	24906430
MIRT607436	hsa-miR-8485	HITS-CLIP	24906430
MIRT560498	hsa-miR-7114-5p	PAR-CLIP	20371350
MIRT560499	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560496	hsa-miR-6077	PAR-CLIP	20371350
MIRT560497	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT560495	hsa-miR-6833-5p	PAR-CLIP	20371350
MIRT441854	hsa-miR-708-3p	PAR-CLIP	22100165
MIRT441853	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441852	hsa-miR-182-3p	PAR-CLIP	22100165
MIRT441851	hsa-miR-597-3p	PAR-CLIP	22100165
MIRT441850	hsa-miR-152-5p	PAR-CLIP	22100165
MIRT441849	hsa-miR-203a-5p	PAR-CLIP	22100165
MIRT441848	hsa-miR-4633-5p	PAR-CLIP	22100165
MIRT441847	hsa-miR-491-3p	PAR-CLIP	22100165
MIRT441846	hsa-miR-578	PAR-CLIP	22100165
MIRT441854	hsa-miR-708-3p	PAR-CLIP	22100165
MIRT441853	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441852	hsa-miR-182-3p	PAR-CLIP	22100165
MIRT441851	hsa-miR-597-3p	PAR-CLIP	22100165
MIRT441850	hsa-miR-152-5p	PAR-CLIP	22100165
MIRT441849	hsa-miR-203a-5p	PAR-CLIP	22100165
MIRT441848	hsa-miR-4633-5p	PAR-CLIP	22100165
MIRT441847	hsa-miR-491-3p	PAR-CLIP	22100165
MIRT441846	hsa-miR-578	PAR-CLIP	22100165
MIRT575904	hsa-miR-8485	HITS-CLIP	27418678
MIRT575904	hsa-miR-8485	HITS-CLIP	27418678
MIRT722465	hsa-miR-8087	HITS-CLIP	19536157
MIRT722464	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT722463	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT722462	hsa-miR-454-5p	HITS-CLIP	19536157
MIRT722461	hsa-miR-617	HITS-CLIP	19536157
MIRT722460	hsa-miR-3909	HITS-CLIP	19536157
MIRT722459	hsa-miR-6852-3p	HITS-CLIP	19536157
MIRT722458	hsa-miR-5701	HITS-CLIP	19536157
MIRT722457	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT722456	hsa-miR-6883-3p	HITS-CLIP	19536157
MIRT722455	hsa-miR-676-3p	HITS-CLIP	19536157
MIRT722454	hsa-miR-2355-3p	HITS-CLIP	19536157
MIRT575904	hsa-miR-8485	HITS-CLIP	23313552
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT674822	hsa-miR-4476	HITS-CLIP	23824327
MIRT674821	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT638562	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT638561	hsa-miR-3655	HITS-CLIP	23824327
MIRT638560	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT638559	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT560498	hsa-miR-7114-5p	PAR-CLIP	20371350
MIRT560499	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560496	hsa-miR-6077	PAR-CLIP	20371350
MIRT560497	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT560495	hsa-miR-6833-5p	PAR-CLIP	20371350
MIRT441854	hsa-miR-708-3p	PAR-CLIP	22100165
MIRT441853	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441852	hsa-miR-182-3p	PAR-CLIP	22100165
MIRT441851	hsa-miR-597-3p	PAR-CLIP	22100165
MIRT441850	hsa-miR-152-5p	PAR-CLIP	22100165
MIRT441849	hsa-miR-203a-5p	PAR-CLIP	22100165
MIRT441848	hsa-miR-4633-5p	PAR-CLIP	22100165
MIRT441847	hsa-miR-491-3p	PAR-CLIP	22100165
MIRT441846	hsa-miR-578	PAR-CLIP	22100165
MIRT441854	hsa-miR-708-3p	PAR-CLIP	22100165
MIRT441853	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441852	hsa-miR-182-3p	PAR-CLIP	22100165
MIRT441851	hsa-miR-597-3p	PAR-CLIP	22100165
MIRT441850	hsa-miR-152-5p	PAR-CLIP	22100165
MIRT441849	hsa-miR-203a-5p	PAR-CLIP	22100165
MIRT441848	hsa-miR-4633-5p	PAR-CLIP	22100165
MIRT441847	hsa-miR-491-3p	PAR-CLIP	22100165
MIRT441846	hsa-miR-578	PAR-CLIP	22100165
MIRT1081172	hsa-miR-106a	CLIP-seq
MIRT1081173	hsa-miR-106b	CLIP-seq
MIRT1081174	hsa-miR-1298	CLIP-seq
MIRT1081175	hsa-miR-130a	CLIP-seq
MIRT1081176	hsa-miR-130b	CLIP-seq
MIRT1081177	hsa-miR-1323	CLIP-seq
MIRT1081178	hsa-miR-17	CLIP-seq
MIRT1081179	hsa-miR-20a	CLIP-seq
MIRT1081180	hsa-miR-20b	CLIP-seq
MIRT1081181	hsa-miR-2110	CLIP-seq
MIRT1081182	hsa-miR-2113	CLIP-seq
MIRT1081183	hsa-miR-2276	CLIP-seq
MIRT1081184	hsa-miR-298	CLIP-seq
MIRT1081185	hsa-miR-301a	CLIP-seq
MIRT1081186	hsa-miR-301b	CLIP-seq
MIRT1081187	hsa-miR-3119	CLIP-seq
MIRT1081188	hsa-miR-3145-3p	CLIP-seq
MIRT1081189	hsa-miR-3150b-3p	CLIP-seq
MIRT1081190	hsa-miR-3185	CLIP-seq
MIRT1081191	hsa-miR-320e	CLIP-seq
MIRT1081192	hsa-miR-3591-5p	CLIP-seq
MIRT1081193	hsa-miR-3609	CLIP-seq
MIRT1081194	hsa-miR-3666	CLIP-seq
MIRT1081195	hsa-miR-3675-5p	CLIP-seq
MIRT1081196	hsa-miR-3691-3p	CLIP-seq
MIRT1081197	hsa-miR-3908	CLIP-seq
MIRT1081198	hsa-miR-3942-5p	CLIP-seq
MIRT1081199	hsa-miR-3978	CLIP-seq
MIRT1081200	hsa-miR-4257	CLIP-seq
MIRT1081201	hsa-miR-4260	CLIP-seq
MIRT1081202	hsa-miR-4271	CLIP-seq
MIRT1081203	hsa-miR-4295	CLIP-seq
MIRT1081204	hsa-miR-433	CLIP-seq
MIRT1081205	hsa-miR-4422	CLIP-seq
MIRT1081206	hsa-miR-4436b-3p	CLIP-seq
MIRT1081207	hsa-miR-4473	CLIP-seq
MIRT1081208	hsa-miR-4474-5p	CLIP-seq
MIRT1081209	hsa-miR-4488	CLIP-seq
MIRT1081210	hsa-miR-451b	CLIP-seq
MIRT1081211	hsa-miR-454	CLIP-seq
MIRT1081212	hsa-miR-4667-5p	CLIP-seq
MIRT1081213	hsa-miR-4671-3p	CLIP-seq
MIRT1081214	hsa-miR-4685-5p	CLIP-seq
MIRT1081215	hsa-miR-4697-5p	CLIP-seq
MIRT1081216	hsa-miR-4700-5p	CLIP-seq
MIRT1081217	hsa-miR-4703-5p	CLIP-seq
MIRT1081218	hsa-miR-4708-3p	CLIP-seq
MIRT1081219	hsa-miR-4725-3p	CLIP-seq
MIRT1081220	hsa-miR-4731-5p	CLIP-seq
MIRT1081221	hsa-miR-4766-3p	CLIP-seq
MIRT1081222	hsa-miR-4768-5p	CLIP-seq
MIRT1081223	hsa-miR-4772-3p	CLIP-seq
MIRT1081224	hsa-miR-4784	CLIP-seq
MIRT1081225	hsa-miR-4786-3p	CLIP-seq
MIRT1081226	hsa-miR-4790-3p	CLIP-seq
MIRT1081227	hsa-miR-4795-5p	CLIP-seq
MIRT1081228	hsa-miR-4796-3p	CLIP-seq
MIRT1081229	hsa-miR-486-3p	CLIP-seq
MIRT1081230	hsa-miR-488	CLIP-seq
MIRT1081231	hsa-miR-519a	CLIP-seq
MIRT1081232	hsa-miR-519b-3p	CLIP-seq
MIRT1081233	hsa-miR-519c-3p	CLIP-seq
MIRT1081234	hsa-miR-519d	CLIP-seq
MIRT1081235	hsa-miR-548ah	CLIP-seq
MIRT1081236	hsa-miR-548o	CLIP-seq
MIRT1081237	hsa-miR-582-3p	CLIP-seq
MIRT1081238	hsa-miR-599	CLIP-seq
MIRT1081239	hsa-miR-621	CLIP-seq
MIRT1081240	hsa-miR-760	CLIP-seq
MIRT1081241	hsa-miR-891b	CLIP-seq
MIRT1081242	hsa-miR-892b	CLIP-seq
MIRT1081243	hsa-miR-93	CLIP-seq
MIRT2020131	hsa-miR-1229	CLIP-seq
MIRT2020132	hsa-miR-128	CLIP-seq
MIRT2020133	hsa-miR-361-3p	CLIP-seq
MIRT2020134	hsa-miR-3679-3p	CLIP-seq
MIRT2020135	hsa-miR-4659a-3p	CLIP-seq
MIRT2020136	hsa-miR-4659b-3p	CLIP-seq
MIRT2020137	hsa-miR-4715-5p	CLIP-seq
MIRT2020138	hsa-miR-4726-3p	CLIP-seq
MIRT2020139	hsa-miR-4733-3p	CLIP-seq
MIRT2020140	hsa-miR-580	CLIP-seq
MIRT2020141	hsa-miR-942	CLIP-seq
MIRT2251958	hsa-miR-1279	CLIP-seq
MIRT2020132	hsa-miR-128	CLIP-seq
MIRT2251959	hsa-miR-1305	CLIP-seq
MIRT2020133	hsa-miR-361-3p	CLIP-seq
MIRT2020134	hsa-miR-3679-3p	CLIP-seq
MIRT2020138	hsa-miR-4726-3p	CLIP-seq
MIRT2251960	hsa-miR-607	CLIP-seq
MIRT2389639	hsa-miR-1197	CLIP-seq
MIRT2389640	hsa-miR-27a	CLIP-seq
MIRT2389641	hsa-miR-27b	CLIP-seq
MIRT2389642	hsa-miR-4436a	CLIP-seq
MIRT2389643	hsa-miR-4700-3p	CLIP-seq
MIRT2389644	hsa-miR-513a-5p	CLIP-seq
MIRT1081205	hsa-miR-4422	CLIP-seq
MIRT2555238	hsa-miR-555	CLIP-seq
MIRT2555239	hsa-miR-661	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	IBA
GO:0005242	Function	Inward rectifier potassium channel activity	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	IMP	20651251
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	17628813, 19931615, 24561201, 25416956
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8995301
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	TAS	8995301
GO:0007601	Process	Visual perception	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0014003	Process	Oligodendrocyte development	IEA
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	TAS	8995301
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	20651251
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0022010	Process	Central nervous system myelination	IEA
GO:0030001	Process	Metal ion transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034765	Process	Regulation of monoatomic ion transmembrane transport	IBA
GO:0035865	Process	Cellular response to potassium ion	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0044297	Component	Cell body	IEA
GO:0044297	Component	Cell body	ISS
GO:0048169	Process	Regulation of long-term neuronal synaptic plasticity	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051935	Process	Glutamate reuptake	IEA
GO:0055075	Process	Potassium ion homeostasis	IEA
GO:0060075	Process	Regulation of resting membrane potential	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IMP	20651251
GO:0097449	Component	Astrocyte projection	IEA
GO:0097449	Component	Astrocyte projection	ISS
GO:0097546	Component	Ciliary base	IEA
GO:0098793	Component	Presynapse	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA

MIM	HGNC	e!Ensembl
602208	6256	ENSG00000177807

P78508

Protein name

ATP-sensitive inward rectifier potassium channel 10 (ATP-dependent inwardly rectifying potassium channel Kir4.1) (Inward rectifier K(+) channel Kir1.2) (Potassium channel, inwardly rectifying subfamily J member 10)

Protein function

May be responsible for potassium buffering action of glial cells in the brain (By similarity). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:899

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01007	IRK	31 → 172	Inward rectifier potassium channel transmembrane domain	Domain
PF17655	IRK_C	179 → 350	Inward rectifier potassium channel C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in kidney (at protein level) (PubMed:24561201). In the nephron, expressed in the distal convoluted tubule, the connecting tubule, the collecting duct and cortical thick ascending limbs (PubMed:20651251). {ECO:0000269|PubMed:2

Sequence

MTSVAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFI
DMQWRYKLLLFSATFAGTWFLFGVVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFL
FSLESQTTIGYGFRYISEECPLAIVLLIAQLVLTTILEIFITGTFLAKIARPKKRAETIR
FSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLLQTHQTKEGENIRLNQVNVTFQV
DTASDSPFLILPLTFYHVVDETSPLKDLPLRSGEGDFELVLILSGTVESTSATCQVRTSY
LPEEILWGYEFTPAISLSASGKYIADFSLFDQVVKVASPSGLRDSTVRYGDPEKLKLEES
LREQAEKEGSALSVRISNV

Sequence length

379

Interactions

View interactions

	KEGG		Reactome
	Gastric acid secretion Huntington disease		Activation of G protein gated Potassium channels Potassium transport channels Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

606

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic	rs1571265375	RCV001836909
Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic; Pathogenic	rs137853067, rs137853070, rs137853071, rs137853073	RCV002496303 RCV001536078 RCV002490337 RCV000007895
Bilateral sensorineural hearing impairment	Pathogenic	rs137853066	RCV001003572
Cerebellar ataxia	Pathogenic	rs137853066	RCV001003572
EAST syndrome	Likely pathogenic; Pathogenic	rs1648622680, rs765409185, rs796052606, rs137853066, rs137853067, rs137853068, rs137853069, rs137853070, rs137853071, rs137853072, rs137853073, rs2525429636, rs2525431823, rs2525431053, rs2525430986 View all (5 more)	RCV001730055 RCV001897488 RCV005860029 RCV000007888 RCV000007889 RCV000007890 RCV000007891 RCV000007892 RCV000007893 RCV000007894 RCV005042011 RCV003316895 RCV003618431 RCV003618433 RCV003618493 RCV003618900 RCV003985003 RCV000023175 RCV000023176 RCV000023177 RCV001043642
Microcephaly	Pathogenic	rs137853066	RCV001003572
Pendred syndrome	Likely pathogenic; Pathogenic	rs137853067, rs137853070, rs137853071	RCV002496303 RCV001536078 RCV002490337
Renal tubular dysfunction	Pathogenic	rs137853066	RCV001003572
SeSAME-like syndrome	Likely pathogenic; Pathogenic	rs1404425302, rs1571265496	RCV000853556 RCV000853557
Spastic diplegia	Pathogenic	rs137853066	RCV001003572

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism	Conflicting classifications of pathogenicity	rs115466046	RCV001258301
Hearing loss, autosomal recessive	Conflicting classifications of pathogenicity	rs142596580	RCV004577730
Intellectual disability	Conflicting classifications of pathogenicity	rs115466046, rs146396982, rs373899425	RCV001258301 RCV001252025 RCV001252024
KCNJ10-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs200522826, rs115466046, rs372841245, rs145947380, rs146426296, rs149615470, rs137853074, rs141553756, rs142228240, rs144495959, rs1314505994, rs750246232, rs775091787, rs774758209	RCV004542841 RCV004724811 RCV004532514 RCV004537388 RCV004539742 RCV004537578 RCV000784954 RCV004541386 RCV004732827 RCV004544736 RCV005863174 RCV004538029 RCV004544783 RCV004544875
Myoepithelial tumor	Uncertain significance	rs2525430544	RCV002463905
Nonsyndromic Hearing Loss, Mixed	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs56656397, rs886045409, rs886045413, rs886045398, rs532869749, rs374287142, rs886045400, rs148441646	RCV000350940 RCV000355793 RCV000389622 RCV000347520 RCV000303677 RCV000311311 RCV000339739 RCV000381065 RCV000319488 RCV000338565 RCV000362624 RCV000272817 RCV000380060
Peripheral neuropathy	Uncertain significance	rs1571265188	RCV001007471
Seizure	Conflicting classifications of pathogenicity	rs1648612559, rs1274663711, rs115466046	RCV004554856 RCV004552036 RCV001258301

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Stimulate	39603277
Alzheimer Disease	Associate	39603277
Arrhythmias Cardiac	Associate	27182706
Ataxia	Associate	21300747, 23924083
Autism Spectrum Disorder	Associate	31722434
Autistic Disorder	Associate	31722434
Brain Neoplasms	Associate	28445150
Cardiomyopathies	Associate	27182706
Chorea	Associate	31722434
Congenital Hyperinsulinism	Associate	23869231
Dementia Multi Infarct	Associate	31640787
Demyelinating Diseases	Associate	25008548
Diabetes Mellitus	Associate	35262732
Diabetic Retinopathy	Associate	35262732
Dystonic Disorders	Associate	31640787
Enuresis	Associate	32419412
Epilepsies Myoclonic	Associate	22612257
Epilepsy	Associate	21300747, 23924083, 23965030, 25874548, 31722434, 40142207
Epilepsy Absence	Associate	25874548
Epilepsy Generalized	Associate	25874548
Gitelman Syndrome	Associate	34607911
Glioblastoma	Associate	28445150, 38150033
Glioma	Associate	38150033
Glycosuria Renal	Associate	34607911
Hearing Loss	Associate	36499699
Hearing Loss Noise Induced	Associate	32176153
Hearing Loss Sensorineural	Associate	21300747
Hemiplegic migraine familial type 2	Associate	17727731
Hypokalemia Familial	Associate	21300747
Intellectual Disability	Associate	31640787
Labyrinth Diseases	Associate	36499699
Lymphoma Follicular	Associate	38150033
Multiple Sclerosis	Associate	25008548, 31328572
Neurologic Manifestations	Associate	25600915, 28445150, 32233732
Nocturnal Enuresis	Associate	32419412
Pendred syndrome	Associate	23965030, 30268946
Seizures	Associate	23965030, 25874548, 32233732
SeSAME syndrome	Associate	21300747, 23924083, 31640787
Sick Sinus Syndrome	Associate	27182706
Thyroid Neoplasms	Associate	38165228

KCNJ10 (potassium inwardly rectifying channel subfamily J member 10)